New Clues For Down Syndrome?

Scientists in Portugal and the US have discovered a key mechanism involved in the correct separation of chromosomes during the formation of eggs and sperm. The research about to be published in the journal Current Biology shows that BubR1 a gene recently shown to affect cell division maintains the cohesion of paired chromosomes (until their time to divide) during the production of reproductive cells. Because BubR1 mutations can result in cells with abnormal numbers of chromosomes, the research has potential implications for human disorders resulting from loss or gain of chromosomes such as Down Syndrome, a disease caused by an extra copy of chromosome 21.

As Claudio Sunkel says, “our observations suggest for the first time that inappropriate or reduced function of a gene like BubR1 might be at the heart of age related chromosome imbalance observed in humans“.